Sunday, June 11, 2023

Jackson Laboratory receives $22.8 million grant for gene-editing based work

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Published: Jun. 10, 2023​. BAR HARBOR, Maine (WABI) - Researchers aiming to develop and validate new gene-editing based therapeutic approach...
Friday, June 9, 2023

Pharmacists are initiators in palliative care for patients with rare diseases

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Dooms, M. Pharmacists are initiators in palliative care for patients with rare diseases. Orphanet J Rare Dis 18, 141 (2023). doi:10.1186/s13...

Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia

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Huang H, Shakkottai VG. Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar ...
Thursday, June 8, 2023

Randomized controlled trial data for successful new drug application for rare diseases in the United States

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Kubota, Y., Narukawa, M. Randomized controlled trial data for successful new drug application for rare diseases in the United States. Orphan...

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

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Alfaro-Olivera M, Calle-Nuñez A, Uribe-León A, Aguirre-Quispe W, Sarapura-Castro E, Cornejo-Olivas M. Ataxia de Friedreich, revisión y actua...
Tuesday, June 6, 2023

XC-103 by Ixchel Pharma for Friedreich Ataxia: Likelihood of Approval

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June 5, 2023. XC-103 is under clinical development by Ixchel Pharma and currently in Phase I for Friedreich Ataxia. According to GlobalData,...
Monday, June 5, 2023

Amplifying gene expression with RNA-targeted therapeutics

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Khorkova O, Stahl J, Joji A, Volmar CH, Wahlestedt C. Amplifying gene expression with RNA-targeted therapeutics. Nature reviews. Drug Discov...

Anaesthetic management of thyroid storm in a patient with Friederich’s ataxia. A case report

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M. Sneyers Closa, A. Pérez Requena, S. Sánchez García, J. Sistac Ballarín, Anaesthetic management of thyroid storm in a patient with Frieder...
Friday, June 2, 2023

Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia

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Tslil Ast, Hong Wang, Eizo Marutani, Fumiaki Nagashima, Rajeev Malhotra, Fumito Ichinose, Vamsi K Mootha, Continuous, but not intermittent, ...
Thursday, June 1, 2023

SEXUAL DIMORPHISM AND CARDIAC ARRHYTHMIAS IN A MOUSE MODEL OF FRIEDREICH'S ATAXIA: WHAT DO WE KNOW?

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Francisco Figueroa, Lili Salinas, Claire Montgomery, Phung N. Thai, Nipavan Chiamvimonvat, Gino Cortopassi, Elena Dedkova, PO-01-126 SEXUAL ...